SNP Links for Protein (Select 40805854) - SNP

Links from Protein

Items: 1 to 20 of 333

<< First< Prev

Page of 17

Next >Last >>

Select item 14906670851.

rs1490667085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:77484524 (GRCh38)
14:77950867 (GRCh37)
Canonical SPDI:: NC_000014.9:77484523:C:A,NC_000014.9:77484523:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
HGVS:: NC_000014.9:g.77484524C>A, NC_000014.9:g.77484524C>T, NC_000014.8:g.77950867C>A, NC_000014.8:g.77950867C>T, NM_182509.4:c.426G>T, NM_182509.4:c.426G>A, NM_182509.3:c.426G>T, NM_182509.3:c.426G>A, NM_199296.3:c.426G>T, NM_199296.3:c.426G>A, NM_199296.2:c.426G>T, NM_199296.2:c.426G>A, NM_199265.2:c.162G>T, NM_199265.2:c.162G>A, NM_199265.1:c.162G>T, NM_199265.1:c.162G>A, NP_872315.2:p.Glu142Asp, NP_954993.1:p.Glu142Asp

Select item 14901288862.

rs1490128886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77484819 (GRCh38)
14:77951162 (GRCh37)
Canonical SPDI:: NC_000014.9:77484818:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77484819C>T, NC_000014.8:g.77951162C>T, NM_182509.4:c.242G>A, NM_182509.3:c.242G>A, NM_199296.3:c.242G>A, NM_199296.2:c.242G>A, NM_199265.2:c.-23G>A, NM_199265.1:c.-23G>A, NP_872315.2:p.Trp81Ter, NP_954993.1:p.Trp81Ter

Select item 14884170093.

rs1488417009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77484460 (GRCh38)
14:77950803 (GRCh37)
Canonical SPDI:: NC_000014.9:77484459:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.77484460C>T, NC_000014.8:g.77950803C>T, NM_182509.4:c.490G>A, NM_182509.3:c.490G>A, NM_199296.3:c.490G>A, NM_199296.2:c.490G>A, NM_199265.2:c.226G>A, NM_199265.1:c.226G>A, NP_872315.2:p.Val164Ile, NP_954993.1:p.Val164Ile

Select item 14834636954.

rs1483463695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77478699 (GRCh38)
14:77945042 (GRCh37)
Canonical SPDI:: NC_000014.9:77478698:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.77478699C>T, NC_000014.8:g.77945042C>T, NM_182509.4:c.644G>A, NM_182509.3:c.644G>A, NM_199296.3:c.990G>A, NM_199296.2:c.990G>A, NM_199265.2:c.726G>A, NM_199265.1:c.726G>A, NP_872315.2:p.Arg215Lys

Select item 14812934775.

rs1481293477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77484779 (GRCh38)
14:77951122 (GRCh37)
Canonical SPDI:: NC_000014.9:77484778:G:A
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.77484779G>A, NC_000014.8:g.77951122G>A, NM_182509.4:c.282C>T, NM_182509.3:c.282C>T, NM_199296.3:c.282C>T, NM_199296.2:c.282C>T, NM_199265.2:c.18C>T, NM_199265.1:c.18C>T

Select item 14809584226.

rs1480958422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:77484469 (GRCh38)
14:77950812 (GRCh37)
Canonical SPDI:: NC_000014.9:77484468:A:G
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77484469A>G, NC_000014.8:g.77950812A>G, NM_182509.4:c.481T>C, NM_182509.3:c.481T>C, NM_199296.3:c.481T>C, NM_199296.2:c.481T>C, NM_199265.2:c.217T>C, NM_199265.1:c.217T>C, NP_872315.2:p.Cys161Arg, NP_954993.1:p.Cys161Arg

Select item 14795970147.

rs1479597014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77498737 (GRCh38)
14:77965080 (GRCh37)
Canonical SPDI:: NC_000014.9:77498736:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.77498737C>T, NC_000014.8:g.77965080C>T, NM_182509.4:c.57G>A, NM_182509.3:c.57G>A, NM_199296.3:c.57G>A, NM_199296.2:c.57G>A, NM_199265.2:c.-313G>A, NM_199265.1:c.-313G>A

Select item 14790822658.

rs1479082265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:77478635 (GRCh38)
14:77944978 (GRCh37)
Canonical SPDI:: NC_000014.9:77478634:G:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.77478635G>T, NC_000014.8:g.77944978G>T, NM_182509.4:c.708C>A, NM_182509.3:c.708C>A, NM_199296.3:c.1054C>A, NM_199296.2:c.1054C>A, NM_199265.2:c.790C>A, NM_199265.1:c.790C>A, NP_954993.1:p.Pro352Thr

Select item 14745788449.

rs1474578844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77484801 (GRCh38)
14:77951144 (GRCh37)
Canonical SPDI:: NC_000014.9:77484800:G:A
Gene:: ISM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.77484801G>A, NC_000014.8:g.77951144G>A, NM_182509.4:c.260C>T, NM_182509.3:c.260C>T, NM_199296.3:c.260C>T, NM_199296.2:c.260C>T, NM_199265.2:c.-5C>T, NM_199265.1:c.-5C>T, NP_872315.2:p.Ala87Val, NP_954993.1:p.Ala87Val

Select item 146279620710.

rs1462796207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:77484385 (GRCh38)
14:77950728 (GRCh37)
Canonical SPDI:: NC_000014.9:77484384:C:G,NC_000014.9:77484384:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.77484385C>G, NC_000014.9:g.77484385C>T, NC_000014.8:g.77950728C>G, NC_000014.8:g.77950728C>T, NM_182509.4:c.565G>C, NM_182509.4:c.565G>A, NM_182509.3:c.565G>C, NM_182509.3:c.565G>A, NM_199296.3:c.565G>C, NM_199296.3:c.565G>A, NM_199296.2:c.565G>C, NM_199296.2:c.565G>A, NM_199265.2:c.301G>C, NM_199265.2:c.301G>A, NM_199265.1:c.301G>C, NM_199265.1:c.301G>A, NP_872315.2:p.Glu189Gln, NP_872315.2:p.Glu189Lys, NP_954993.1:p.Glu189Gln, NP_954993.1:p.Glu189Lys

Select item 145789792911.

rs1457897929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:77478313 (GRCh38)
14:77944656 (GRCh37)
Canonical SPDI:: NC_000014.9:77478312:T:C
Gene:: ISM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.77478313T>C, NC_000014.8:g.77944656T>C, NM_182509.4:c.781A>G, NM_182509.3:c.781A>G, NM_199296.3:c.1127A>G, NM_199296.2:c.1127A>G, NM_199265.2:c.863A>G, NM_199265.1:c.863A>G, NP_872315.2:p.Arg261Gly, NP_954993.1:p.Lys376Arg

Select item 145691727712.

rs1456917277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77484714 (GRCh38)
14:77951057 (GRCh37)
Canonical SPDI:: NC_000014.9:77484713:G:A
Gene:: ISM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001491/36 (ALFA)
A=0.000038/5 (GnomAD)
A=0.000354/10 (TOMMO)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000014.9:g.77484714G>A, NC_000014.8:g.77951057G>A, NM_182509.4:c.347C>T, NM_182509.3:c.347C>T, NM_199296.3:c.347C>T, NM_199296.2:c.347C>T, NM_199265.2:c.83C>T, NM_199265.1:c.83C>T, NP_872315.2:p.Ala116Val, NP_954993.1:p.Ala116Val

Select item 145627950313.

rs1456279503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77484478 (GRCh38)
14:77950821 (GRCh37)
Canonical SPDI:: NC_000014.9:77484477:G:A
Gene:: ISM2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000095/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77484478G>A, NC_000014.8:g.77950821G>A, NM_182509.4:c.472C>T, NM_182509.3:c.472C>T, NM_199296.3:c.472C>T, NM_199296.2:c.472C>T, NM_199265.2:c.208C>T, NM_199265.1:c.208C>T, NP_872315.2:p.Gln158Ter, NP_954993.1:p.Gln158Ter

Select item 145480584214.

rs1454805842 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:77484734 (GRCh38)
14:77951077 (GRCh37)
Canonical SPDI:: NC_000014.9:77484733:C:
Gene:: ISM2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.77484734del, NC_000014.8:g.77951077del, NM_182509.4:c.327del, NM_182509.3:c.327del, NM_199296.3:c.327del, NM_199296.2:c.327del, NM_199265.2:c.63del, NM_199265.1:c.63del, NP_872315.2:p.Gln110fs, NP_954993.1:p.Gln110fs

Select item 145294331115.

rs1452943311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:77484358 (GRCh38)
14:77950701 (GRCh37)
Canonical SPDI:: NC_000014.9:77484357:G:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000711/18 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
T=0.000672/19 (TOMMO)
HGVS:: NC_000014.9:g.77484358G>T, NC_000014.8:g.77950701G>T, NM_182509.4:c.592C>A, NM_182509.3:c.592C>A, NM_199296.3:c.592C>A, NM_199296.2:c.592C>A, NM_199265.2:c.328C>A, NM_199265.1:c.328C>A, NP_872315.2:p.His198Asn, NP_954993.1:p.His198Asn

Select item 145244948516.

rs1452449485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77478317 (GRCh38)
14:77944660 (GRCh37)
Canonical SPDI:: NC_000014.9:77478316:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77478317C>T, NC_000014.8:g.77944660C>T, NM_182509.4:c.777G>A, NM_182509.3:c.777G>A, NM_199296.3:c.1123G>A, NM_199296.2:c.1123G>A, NM_199265.2:c.859G>A, NM_199265.1:c.859G>A, NP_954993.1:p.Asp375Asn

Select item 144995257417.

rs1449952574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77476096 (GRCh38)
14:77942439 (GRCh37)
Canonical SPDI:: NC_000014.9:77476095:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77476096C>T, NC_000014.8:g.77942439C>T, NM_182509.4:c.869G>A, NM_182509.3:c.869G>A, NM_199296.3:c.1215G>A, NM_199296.2:c.1215G>A, NM_199265.2:c.951G>A, NM_199265.1:c.951G>A, NP_872315.2:p.Arg290Lys

Select item 144785731118.

rs1447857311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:77478294 (GRCh38)
14:77944637 (GRCh37)
Canonical SPDI:: NC_000014.9:77478293:G:A,NC_000014.9:77478293:G:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77478294G>A, NC_000014.9:g.77478294G>T, NC_000014.8:g.77944637G>A, NC_000014.8:g.77944637G>T, NM_182509.4:c.800C>T, NM_182509.4:c.800C>A, NM_182509.3:c.800C>T, NM_182509.3:c.800C>A, NM_199296.3:c.1146C>T, NM_199296.3:c.1146C>A, NM_199296.2:c.1146C>T, NM_199296.2:c.1146C>A, NM_199265.2:c.882C>T, NM_199265.2:c.882C>A, NM_199265.1:c.882C>T, NM_199265.1:c.882C>A, NP_872315.2:p.Pro267Leu, NP_872315.2:p.Pro267Gln

Select item 144609666819.

rs1446096668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77484740 (GRCh38)
14:77951083 (GRCh37)
Canonical SPDI:: NC_000014.9:77484739:C:T
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77484740C>T, NC_000014.8:g.77951083C>T, NM_182509.4:c.321G>A, NM_182509.3:c.321G>A, NM_199296.3:c.321G>A, NM_199296.2:c.321G>A, NM_199265.2:c.57G>A, NM_199265.1:c.57G>A

Select item 144212595720.

rs1442125957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77498670 (GRCh38)
14:77965013 (GRCh37)
Canonical SPDI:: NC_000014.9:77498669:G:A
Gene:: ISM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77498670G>A, NC_000014.8:g.77965013G>A, NM_182509.4:c.124C>T, NM_182509.3:c.124C>T, NM_199296.3:c.124C>T, NM_199296.2:c.124C>T, NM_199265.2:c.-246C>T, NM_199265.1:c.-246C>T, NP_872315.2:p.Leu42Phe, NP_954993.1:p.Leu42Phe

<< First< Prev

Page of 17

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 333

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity